ORPHA:369942
CADDS
Also known as: Contiguous ABCD1 DXS1357E deletion syndrome · Zellweger-like contiguous gene deletion syndrome
Clinical definition (Orphanet)
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, , profound , severe global development delay, elevated very long chain fatty acids in plasma, and cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, , and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
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.
Is anyone studying this?
135
135 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
135 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
89 in the last 10 years · medium confidence · 65th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
944
Distinct author names in 135 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.
- 01Hser YI11 papers · 2015
UCLA Integrated Substance Abuse Programs, Semel Institute for Neuroscience and Human Behavior, 11075 Santa Monica Blvd., Suite 200, Los Angeles, CA 90025, USA.
Papers in Europe PMC - 02Evans E8 papers · 2015
UCLA Integrated Substance Abuse Programs, Semel Institute for Neuroscience and Human Behavior, 11075 Santa Monica Blvd., Suite 200, Los Angeles, CA 90025, USA. Electronic address: laevans@ucla.edu.
Papers in Europe PMC - 03Huang D7 papers · 2015
UCLA Integrated Substance Abuse Programs, Los Angeles, CA, USA.
Papers in Europe PMC - 04Li L5 papers · 2015
UCLA Integrated Substance Abuse Programs, Semel Institute for Neuroscience and Human Behavior, 11075 Santa Monica Blvd., Suite 200, Los Angeles, CA 90025, USA.
Papers in Europe PMC - 05Urada D5 papers · 2015
UCLA Integrated Substance Abuse Programs, Los Angeles, CA, USA.
Papers in Europe PMC - 06Raymond GV4 papers · 2022
From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam.
Papers in Europe PMC - 07Bryant RA3 papers · 2023
Brain Dynamics Centre, Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia.
Papers in Europe PMC - 08Engelen M3 papers · 2022
Department of Pediatric Neurology, Amsterdam UMC, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC - 09Kemp S3 papers · 2022
Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC - 10Kim OT3 papers · 2018
Department of Herbal Crop Research, National Institute of Horticultural and Herbal Science, RDA, Eumseong 369-871, Republic of Korea. kimot99@hanmail.net
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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 below but are not added to the query string.
"CADDS" OR "Contiguous ABCD1 DXS1357E deletion syndrome" OR "Zellweger-like contiguous gene deletion syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CADDS" OR "Contiguous ABCD1 DXS1357E deletion syndrome" OR "Zellweger-like contiguous gene deletion syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus