ORPHA:100998
Autosomal dominant spastic paraplegia type 17
Also known as: SPG17 · Silver syndrome · Spastic paraplegia-amyotrophy of hands and feet
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,412
Trials
0
Interventional, condition-specific
Researchers
1,190
Distinct authors in sample
Gene link
BSCL2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A complex spastic paraplegia characterized by spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.
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:0010043
- MeSH:C536644
- OMIM:270685
- UMLS:C2931276
Additional Mondo synonyms (7)
BSCL2 hereditary spastic paraplegia · Silver spastic paraplegia syndrome · autosomal dominant spastic paraplegia type 17 · hereditary spastic paraplegia caused by mutation in BSCL2 · hereditary spastic paraplegia type 17 · spastic paraplegia with amyotrophy of hands and feet · spastic paraplegia-amyotrophy of hands and feet
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 — BSCL2
- LiteraturePresent
2,412 matched papers (1,424 in last 10 years) Source
- Phenotype characterisedPresent
35 HPO annotations (e.g. Hyperreflexia; Abnormality of the foot musculature; Babinski sign) 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 (BSCL2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
35
Associated phenotypes · MONDO:0010043
- Hyperreflexia
- Abnormality of the foot musculature
- Babinski sign
- Ankle weakness
- Abnormal motor nerve conduction velocity
Showing 5 of 35 — 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?
2,412
2,412 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.
2,412 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).
1,424 in the last 10 years · low confidence
Phrase hits: 1,060 · MeSH hits: 0
Who's working on it?
1,190
Distinct author names in 200 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.
- 01Wang Y7 papers · 2026
Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, China.
Papers in Europe PMC - 02Ito D5 papers · 2018
Department of Neurology, School of Medicine, Keio University.
Papers in Europe PMC - 03Crosby AH4 papers · 2021
Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Papers in Europe PMC - 04Dierick I4 papers · 2010Papers in Europe PMC
- 05Houlden H4 papers · 2026
From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.
Papers in Europe PMC - 06Liu Y4 papers · 2026
Department of Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 07Suzuki N4 papers · 2018
Department of Neurology, Keio University School of Medicine, Japan.
Papers in Europe PMC - 08Timmerman V4 papers · 2010Papers in Europe PMC
- 09Zhang Y4 papers · 2026
Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China.
Papers in Europe PMC - 10De Jonghe P3 papers · 2010Papers in Europe PMC
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)
- isrctn·ISRCTN11298659·Recruiting·A clinical study of a new dressing (GellanAA) for the treatment of burn wounds
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11595117·No longer recruiting·A study evaluating single-agent inavolisib and inavolisib plus atezolizumab in PIK3CA-mutated cancers
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN51996779·Recruiting·A clinical trial to explore the potential of ondansetron for treating hallucinations in people with Parkinson’s disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN36834159·No longer recruiting·IgA nephropathy study in Indians
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN36828561·No longer recruiting·The safety and efficacy of growth hormone treatment in children born small for gestational age
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN20279720·No longer recruiting·Brain Development after prenatal growth retardation: effects of growth hormone treatment
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN65230311·No longer recruiting·Efficacy and safety of growth hormone treatment in short children born small for gestational age; effects of growth hormone levels on growth, insulin sensitivity and body composition
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN96883876·No longer recruiting·Growth hormone treatment of children after IntraUterine Growth Retardation: IUGR-2 study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18062389·No longer recruiting·Efficacy and safety of long-term growth hormone treatment In short children born small for gestational age above the age of 8 years
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 Autosomal dominant spastic paraplegia type 17 — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Spinal muscular atrophy as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
("Autosomal dominant spastic paraplegia type 17" OR "SPG17" OR "Silver syndrome" OR "Spastic paraplegia-amyotrophy of hands and feet" OR "Spastic paraplegia-amyotrophy of the hands and feet" OR "BSCL2 hereditary spastic paraplegia" OR "Silver spastic paraplegia syndrome" OR "hereditary spastic paraplegia caused by mutation in BSCL2" OR "hereditary spastic paraplegia type 17" OR "spastic paraplegia with amyotrophy of hands and feet" OR "spastic paraplegia with amyotrophy of the hands and feet") OR (MESH:"Spastic paraplegia 17") OR ("BSCL2" OR "BSCL2 syndrome" OR "BSCL2-related")MeSH descriptor terms unioned into the query: Spastic paraplegia 17
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant spastic paraplegia type 17" OR "SPG17" OR "Silver syndrome" OR "Spastic paraplegia-amyotrophy of hands and feet" OR "Spastic paraplegia-amyotrophy of the hands and feet" OR "BSCL2 hereditary spastic paraplegia" OR "Silver spastic paraplegia syndrome" OR "hereditary spastic paraplegia caused by mutation in BSCL2" OR "hereditary spastic paraplegia type 17" OR "spastic paraplegia with amyotrophy of hands and feet" OR "spastic paraplegia with amyotrophy of the hands and feet" OR "Spastic paraplegia 17"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2412) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:10:28.320Z