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ORPHA:401805

Autosomal recessive spastic paraplegia type 63

low confidenceDisorder

Also known as: SPG63

Publications

596

Trials

0

Interventional, condition-specific

Researchers

230

Distinct authors in sample

Gene link

AMPD2

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

AMPD2 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in AMPD2 · hereditary spastic paraplegia type 63

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.

  1. Gene identifiedPresent

    Limited — AMPD2

  2. LiteraturePresent

    596 matched papers (425 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Gait disturbance; Impaired vibration sensation at ankles; Hyperreflexia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Possibly — only limited evidence so far for AMPD2.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0014305

  • Gait disturbance
  • Impaired vibration sensation at ankles
  • Hyperreflexia
  • Hypertonia
  • Hypoplasia of the corpus callosum

Showing 5 of 23 — 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?

596

596 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.

596 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).

425 in the last 10 years · low confidence

Phrase hits: 26 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

230

Distinct author names in 26 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.

  1. 01
    Stevanin G3 papers · 2021

    Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.

    Papers in Europe PMC
  2. 02
    Koh K2 papers · 2020

    Department of Clinical Research (Y.O., M. Yoshita), National Hospital Organization, Hokuriku National Hospital, Nanto; Department of Neurology (K.K., Y.T.), Graduate School of Medical Science, University of Yamanashi, Tyuo; Department of Neurology (H.I.), The University of Tokyo; Department of Molecular Neurology (S.T.), Graduate School of Medicine, The University of Tokyo; Institute of Medical Genomics (S.T.), International University of Health and Welfare, Chiba; and Department of Neurology and Neurobiology of Aging (M. Yamada), Kanazawa University Graduate School of Medical Sciences, Japan.

    Papers in Europe PMC
  3. 03
    Leventer RJ2 papers · 2019

    Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

    Papers in Europe PMC
  4. 04
    Lockhart PJ2 papers · 2019

    Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

    Papers in Europe PMC
  5. 05
    Novarino G2 papers · 2019

    Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.

    Papers in Europe PMC
  6. 06
    Shi Y2 papers · 2025

    Xi'an Medical University, Xi'an, 710021, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Takiyama Y2 papers · 2020

    Department of Clinical Research (Y.O., M. Yoshita), National Hospital Organization, Hokuriku National Hospital, Nanto; Department of Neurology (K.K., Y.T.), Graduate School of Medical Science, University of Yamanashi, Tyuo; Department of Neurology (H.I.), The University of Tokyo; Department of Molecular Neurology (S.T.), Graduate School of Medicine, The University of Tokyo; Institute of Medical Genomics (S.T.), International University of Health and Welfare, Chiba; and Department of Neurology and Neurobiology of Aging (M. Yamada), Kanazawa University Graduate School of Medical Sciences, Japan.

    Papers in Europe PMC
  8. 08
    Zaki MS2 papers · 2022

    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.

    Papers in Europe PMC
  9. 09
    Abbaszadegan MR1 paper · 2022

    Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.

    Papers in Europe PMC
  10. 10
    Abdel-Salam GMH1 paper · 2014

    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.

    Papers 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 recessive spastic paraplegia type 63 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Autosomal recessive spastic paraplegia type 63" OR "SPG63" OR "AMPD2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" OR "hereditary spastic paraplegia type 63") OR ("AMPD2" OR "AMPD2 syndrome" OR "AMPD2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal recessive spastic paraplegia type 63" OR "SPG63" OR "AMPD2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" OR "hereditary spastic paraplegia type 63"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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 (596) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:25:09.598Z