ORPHA:309324
Free sialic acid storage disease, infantile form
Also known as: ISSD
Publications
687
Trials
0
Interventional, condition-specific
Researchers
153
Distinct authors in sample
Gene link
SLC17A5
Strong
Readiness
3/6
Stages with a signal
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010027
- OMIM:269920
- UMLS:C1096902
Additional Mondo synonyms (1)
sialic acid storage disorder, infantile
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — SLC17A5
- LiteraturePresent
687 matched papers (510 in last 10 years) Source
- Phenotype characterisedPresent
31 HPO annotations (e.g. Epicanthus; Osteopenia; Vacuolated lymphocytes) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SLC17A5).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
31
Associated phenotypes · MONDO:0010027
- Epicanthus
- Osteopenia
- Vacuolated lymphocytes
- High palate
- Gingival overgrowth
Showing 5 of 31 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
687
687 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
687 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
510 in the last 10 years · low confidence
Phrase hits: 8 · MeSH hits: 0
Who's working on it?
153
Distinct author names in 8 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Armstrong J1 paper · 2014Papers in Europe PMC
- 02Bajaj S1 paper · 2024
The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India.
Papers in Europe PMC - 03
- 04Baroudy S1 paper · 2025
Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Papers in Europe PMC - 05Baudet H1 paper · 2024
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Papers in Europe PMC - 06
- 07
- 08Bhavsar R1 paper · 2024
FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.
Papers in Europe PMC - 09Bijarnia S1 paper · 2024
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category free sialic acid storage disease also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: free sialic acid storage disease
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 22 · after dedupe 22 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (22)
- ctis·2025-520622-38-00·Authorised·Personalized antibiotic TREATment for febrile Urinary Tract Infections in children (TREAT-UTI study): multicenter randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-520611-14-00·Authorised·A Multicentric, Drug-Repositioning, Self Controlled Case Series (SCCS) Clinical Trial to Evaluate the Efficacy and Safety of Perampanel in Improving Behavioral Symptoms and Increasing the Quality of Life in Patients with White-Sutton syndrome (POGZ-Related Disorder)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519041-29-02·Authorised, ongoing·The effect of additional pre-extubational loading dose of caffeine-citrate
skipped — LLM skipped (--skip-llm)
- ctis·2024-515778-28-00·Authorised, ongoing·18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in late-infantile and juvenile-onset forms of GM1 gangliosidosis or GM2 gangliosidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2024-517759-11-00·Authorised·Impact of early proactive therapeutic drug monitoring on the durability and efficacy of infliximab therapy in pediatric inflammatory bowel disease: a multicenter open-label randomized-control trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-512715-42-00·Authorised, ongoing·The ADAPT Study: An Open-Label, Long-term Safety Study of INZ-701 in Patients with ENPP1 Deficiency and ABCC6 Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-514402-31-00·Cancelled·A Global, Multicenter, Single-arm, Matched External Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517488-22-00·Authorised, ongoing·Prediction and prevention of infantile spasms in high risk children
skipped — LLM skipped (--skip-llm)
- ctis·2023-506761-65-00·Expired·A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Patients With Spinal Muscular Atrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-514773-22-00·Expired·A French multicenter Phase 4 open label extension study of long-term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France
skipped — LLM skipped (--skip-llm)
- ctis·2024-513859-33-00·Cancelled·An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Safety,
Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment-naïve Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504419-34-00·Expired·A three-period multicenter study, with a randomized-withdrawal, double-blinded, placebo-controlled design to evaluate the clinical efficacy, safety and tolerability of MAS825 in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508926-91-00·Authorised, ongoing·Randomized multi-centre open-label non-inferiority phase 3 clinical trial for patients with a stage IV childhood renal tumour comparing upfront Vincristine, Actinomycin-D and Doxorubicin (VAD, standard arm) with upfront Vincristine, Carboplatin and Etoposide (VCE, experimental arm)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503420-19-00·Cancelled·A prospective, randomized, double-blind, placebo-controlled, two-stage, multicenter study with an open-label extension period to investigate the efficacy and safety of NT 201 in the treatment of lower limb spasticity in children and adolescents with cerebral palsy
skipped — LLM skipped (--skip-llm)
- ctis·2023-507794-17-00·Expired·An Open-Label Study with Extension Phase to Evaluate the Efficacy and Safety of Perampanel Administered as an Adjunctive Therapy in Pediatric Subjects (Age 1 Month to Less Than 18 Years) With Childhood Epilepsy
skipped — LLM skipped (--skip-llm)
- ctis·2023-505161-81-00·Authorised, ongoing·A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients with Spinal Muscular Atrophy who Experienced a Plateau or Decline in Function After Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2023-504508-26-00·Authorised, ongoing·A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients with Spinal Muscular Atrophy After Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2022-501095-25-01·Authorised, recruiting·An Open-label Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects with Infantile-onset Pompe Disease Aged 0 to <18 Years
skipped — LLM skipped (--skip-llm)
- ctis·2022-502332-39-00·Authorised, ongoing·Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504900-28-00·11·A Phase 1/2 Clinical Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation (RESKUE)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503382-29-00·Cancelled·ILLUMINATE-C: A Single Arm Study to Evaluate Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Patients with Advanced Primary Hyperoxaluria Type 1 (PH1)
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Free sialic acid storage disease, infantile form — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Free sialic acid storage disease, infantile form" OR "sialic acid storage disorder, infantile") OR ("SLC17A5" OR "SLC17A5 syndrome" OR "SLC17A5-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Free sialic acid storage disease, infantile form" OR "sialic acid storage disorder, infantile"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"free sialic acid storage disease"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ISSD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (687) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:57:22.654Z