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Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia (CYGNET)

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ClinicalTrials.gov Identifier: NCT05008874
Recruitment Status : Recruiting
First Posted : August 17, 2021
Last Update Posted : May 17, 2022
Sponsor:
Information provided by (Responsible Party):
SwanBio Therapeutics, Inc.

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.

Condition or disease Intervention/treatment
AMN AMN Gene Mutation X-ALD Other: Natural History Observation

Detailed Description:

Progressive weakness and spasticity of the legs are characteristics of numerous disorders and conditions, including those that are inherited neurological disorders.

Adrenomyeloneuropathy (AMN) is an example of an inherited form of spastic paraplegia.

Adrenoleukodystrophy (ALD) is a progressive neurodegenerative disorder caused by a mutation in the ABCD1 gene localized to the X-chromosome (Xq28). The ABCD1 gene encodes a peroxisomal adenosine triphosphate (ATP) binding cassette transporter responsible for transport of very long chain fatty acids (VLCFA) from the cytosol into the peroxisome for degradation. A mutation in ABCD1 results in reduction in the degradation of the VLCFA by peroxisomal β-oxidation, and saturated VLCFA, in particular C26:0, accumulate in tissues and body fluids (i.e., brain, nervous system, adrenal glands). One of the key clinical symptoms during aging of ALD patients is a slowly progressive axonopathy affecting sensory ascending and motor descending spinal cord tracts with 100% penetrance in men, an ALD phenotype known as AMN. There are no treatment options available, which leaves AMN patients with a progressive disorder that leads to lifelong physical disability. The progressive dying-back axonopathy represents the core clinical feature of AMN, with onset usually between 20 and 30 years of age in male participants. The initial symptoms include progressive stiffness and weakness of the legs, impaired vibration and position senses in the lower limbs, falls, sphincter disturbances and impotence, as well as scarce scalp hair (alopecia). About 66% of male AMN patients have adrenocortical insufficiency (Addison disease).

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 SwanBio interventional medications.

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Study Type : Observational
Estimated Enrollment : 80 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Prospective, Retrospective, Multicenter, Observational Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
Actual Study Start Date : June 21, 2021
Estimated Primary Completion Date : April 30, 2023
Estimated Study Completion Date : May 1, 2025


Group/Cohort Intervention/treatment
Males with AMN
Adult males with confirmed diagnosis of ALD and symptoms of AMN.
Other: Natural History Observation
Data collection on progression of disease




Primary Outcome Measures :
  1. Disease progression [ Time Frame: 2 years ]
    Characterize disease progression in adults diagnosed with AMN in serial clinical evaluations of walking


Secondary Outcome Measures :
  1. Change in Quality of Life [ Time Frame: 2 years ]
    Characterize the Change in multiple Quality of Life (QoL) parameters over time



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
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.
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  1. Diagnosed with cerebral inflammatory disease or has a history of diagnosis with cerebral inflammatory disease
  2. 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
  3. 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05008874


Contacts
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Contact: Clinical Trial Recruitment (267) 417-6356 clinicaltrials@swanbiotx.com

Locations
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United States, California
Stanford Neuroscience Health Center Recruiting
Stanford, California, United States, 94304
United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84112
Germany
University of Leipzig Medical Center Recruiting
Leipzig, Germany
Netherlands
Amsterdam UMC Recruiting
Amsterdam, Netherlands
Sponsors and Collaborators
SwanBio Therapeutics, Inc.
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Responsible Party: SwanBio Therapeutics, Inc.
ClinicalTrials.gov Identifier: NCT05008874    
Other Study ID Numbers: SBTNHX-CT901
First Posted: August 17, 2021    Key Record Dates
Last Update Posted: May 17, 2022
Last Verified: May 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by SwanBio Therapeutics, Inc.:
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
Additional relevant MeSH terms:
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Muscle Spasticity
Paraplegia
Disease Progression
Disease Attributes
Pathologic Processes
Muscular Diseases
Musculoskeletal Diseases
Muscle Hypertonia
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Paralysis