Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia

NCT05008874 | Terminated

• 1 other identifier: SBTNHX-CT901
• Study Type: observational
• Target: 65
• Locations: 3 countries
• Sites: 6

Brief Summary

The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments. This study will help obtain a better understanding of the progression of disease with AMN and facilitate efficient clinical development of future interventional medications.

Conditions

AMN; AMN Gene Mutation; X-ALD

Keywords

AMN; X-ALD; Natural History; Adrenoleukodystrophy; X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Myeloneuropathy; Spastic paraplegia; Hereditary Spastic Paraplegia; HSP; ALD; ABCD1; ALDP; CALD; CCALD; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Demyelinating Diseases; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Peroxisomal Disorders; Metabolic Diseases; Adrenal Insufficiency

Outcome Measures

Primary Outcomes (1)

• Disease progression

  Characterize disease progression in adults diagnosed with AMN in serial clinical evaluations of walking

  5 years

Secondary Outcomes (1)

• Change in Quality of Life

  5 years

Study Arms (1)

Males with AMN

Adult males with confirmed diagnosis of ALD and symptoms of AMN.

Other: Natural History Observation

Interventions

Natural History Observation OTHER

Data collection on progression of disease

Males with AMN

Eligibility Criteria

• Age: 18 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult males diagnosed with ALD (without cerebral disease) and symptoms of AMN who have no other major confounding comorbidities.

You may qualify if:

• Male adults aged ≥18 years
• Diagnosed with ALD based on elevated VLCFA assay and pedigree analysis
• Clinical evidence of spinal cord involvement with EDSS score between 1 and 6.5

You may not qualify if:

• Diagnosed with cerebral inflammatory disease or has a history of diagnosis with cerebral inflammatory disease
• Unstable, clinically significant neurologic (other than the disease being studied), psychiatric, cardiovascular, ophthalmologic, pulmonary, hepatic, renal, metabolic, gastrointestinal, urologic, immunologic, hematopoietic, or endocrine disease (other than adrenal insufficiency) or other abnormality, which may impact the ability to participate in the study or that may potentially confound the study results
• Participant who, in the opinion of the Investigator, has any other medical or psychological condition or social circumstances which would impair their ability to participate reliably in the assessments, or who may increase the risk to themselves or others by participating

Sponsors & Collaborators

• SwanBio Therapeutics, Inc.: lead

Study Sites (6)

Stanford Neuroscience Health Center

Stanford, California, 94304, United States

Location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Weill Medical College of Cornell University

New York, New York, 10065, United States

Location

University of Utah

Salt Lake City, Utah, 84112, United States

Location

University of Leipzig Medical Center

Leipzig, Germany

Location

Amsterdam UMC

Amsterdam, Netherlands

Location

MeSH Terms

Conditions

Adrenoleukodystrophy; Paraplegia; Spastic Paraplegia, Hereditary; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Demyelinating Diseases; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Peroxisomal Disorders; Metabolic Diseases; Adrenal Insufficiency

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Paralysis; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 12, 2021
• First Posted: August 17, 2021
• Study Start: June 21, 2021
• Primary Completion: May 16, 2025
• Study Completion: May 16, 2025
• Last Updated: October 30, 2025

Record last verified: 2025-06

Locations

US (4); NL (1); DE (1)