Corrective Exercise and Rehabilitation in Fanconi Anemia: A Case Study

NCT06958380 | Completed DMC

• 1 other identifier: PA25FA-2-03
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

Introduction: Fanconi anemia (FA) is a rare autosomal recessive DNA repair disorder characterized by congenital malformations, progressive bone marrow failure, and reduced quality of life. Although physical and occupational therapy are routinely recommended to address skeletal anomalies in FA, no studies have evaluated the impact of a structured corrective exercise and rehabilitation program on patient outcomes. Method: In this single case clinical report, an adult FA patient will complete a 12 week supervised corrective exercise and rehabilitation program (36 sessions; 3 × 40-45 min/week) delivered via in-person supervised sessions. Primary outcome is change in patient reported quality of life (SF 36) from baseline to week 12; secondary outcomes include muscle strength, fatigue severity, postural parameters, and hematological indices.

Conditions

Fanconi Anemia

Keywords

Corrective Exercise; Quality of Life (QoL); Physical Therapy Intervention; Fatigue; Postural Correction

Outcome Measures

Primary Outcomes (2)

• Rate of changes in hyper-kyphosis

  Evaluating the effect of supervised exercise on hyper-kyphosis using the Debrunner Kyphometer, a non-radiologic gold standard tool. This device measures the kyphosis angle by positioning its arms on the spinous processes of T2-T3 (upper point) and T11-T12 (lower point), with direct angle readings from the calibrated scale. Measurements are taken in degrees, with hyper-kyphosis defined as ≥53° in women and ≥55° in men.

  Pre-intervention and Week 12

• Rate of changes in forward head posture

  Evaluating the effect of supervised exercise on forward head posture craniocervical angle (CVA) analysis using digital photogrammetry. Reflective markers are placed on the C7 spinous process and the tragus of the ear, followed by lateral image capture at a standardized 1.5-meter distance. Image analysis software, such as Kinovea, automatically calculates the CVA angle. A normal posture is defined as CVA ≥53°, while a severe forward head posture is \<50°.

  Pre-intervention and Week 12

Secondary Outcomes (7)

• Change in Quality of Life (SF-36)

  Pre-intervention and Week 12

• Change in Fatigue Severity

  Pre-intervention and Week 12

• Rate of changes of daily physical activity level

  Pre-intervention and Week 12

• Change in Muscle Strength

  Pre-intervention and Week 12

• Rate of changes of balance and fall risk

  Pre-intervention and Week 12

Study Arms (1)

Exercise group

EXPERIMENTAL

The patient in this clinical case study will undergo a 12-week corrective exercise and rehabilitation program specifically tailored to individuals with Fanconi Anemia. Each session will be conducted via in-person supervised sessions and will last approximately 40-45 minutes, performed three times per week, totaling 36 sessions. The program will incorporate exercises targeting postural correction, functional mobility, strength, and endurance, and will be supervised in real-time by a trained rehabilitation specialist.

Behavioral: Corrective exercise and rehabilitation

Interventions

Corrective exercise and rehabilitation BEHAVIORAL

This is a longitudinal single-subject case study in which one adult patient diagnosed with Fanconi anemia will undergo a structured, supervised corrective exercise and rehabilitation program. The subject will serve as their own control, with baseline measurements compared to post-intervention outcomes.

Exercise group

Eligibility Criteria

• Age: 18 Years+
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Confirmed diagnosis of Fanconi Anemia through genetic testing
• Age 18 years or older
• Medically stable and cleared for exercise participation by their physician
• Ability to provide informed consent
• Access to a smartphone, tablet, or computer with stable internet connection
• Willingness to participate in scheduled rehabilitation sessions over 12 weeks

You may not qualify if:

• Presence of unstable medical conditions (e.g., uncontrolled infections, recent surgery, severe cardiopulmonary issues)
• Cognitive impairments that interfere with understanding or performing exercise instructions
• Recent hematopoietic stem cell transplantation (within past 3 months)
• Concurrent participation in another structured physical rehabilitation program

Sponsors & Collaborators

• Pardis Specialized Wellness Institute: lead

Study Sites (1)

Pardis specialized wellness institute

Isfahan, Iran

Location

Related Publications (11)

• Akshintala S, Khalil N, Yohay K, Muzikansky A, Allen J, Yaffe A, Gross AM, Fisher MJ, Blakeley JO, Oberlander B, Pudel M, Engelson C, Obletz J, Mitchell C, Widemann BC, Stevenson DA, Plotkin SR; REiNS International Collaboration. Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2. Neurology. 2021 Aug 17;97(7 Suppl 1):S99-S110. doi: 10.1212/WNL.0000000000012439. Epub 2021 Jul 6.

  PMID: 34230196 BACKGROUND

• Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica. 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981.

  PMID: 35417938 BACKGROUND

• Eghbali A, Safdari SM, Yousefi Roozbahani M, Tavajohi K, Hosseini S. Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report. Clin Case Rep. 2024 Nov 17;12(11):e9583. doi: 10.1002/ccr3.9583. eCollection 2024 Nov.

  PMID: 39559288 BACKGROUND

• Dufour C, Pierri F. Modern management of Fanconi anemia. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393.

  PMID: 36485157 BACKGROUND

• Hardy SE, Gill TM. Factors associated with recovery of independence among newly disabled older persons. Arch Intern Med. 2005 Jan 10;165(1):106-12. doi: 10.1001/archinte.165.1.106.

  PMID: 15642885 BACKGROUND

• Impellizzeri FM, Agosti F, De Col A, Sartorio A. Psychometric properties of the Fatigue Severity Scale in obese patients. Health Qual Life Outcomes. 2013 Mar 6;11:32. doi: 10.1186/1477-7525-11-32.

  PMID: 23496886 BACKGROUND

• Moreno OM, Paredes AC, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed Rep. 2021 Sep;15(3):74. doi: 10.3892/br.2021.1450. Epub 2021 Jul 15.

  PMID: 34405046 BACKGROUND

• Singla D, Veqar Z. Association Between Forward Head, Rounded Shoulders, and Increased Thoracic Kyphosis: A Review of the Literature. J Chiropr Med. 2017 Sep;16(3):220-229. doi: 10.1016/j.jcm.2017.03.004. Epub 2017 Sep 28.

  PMID: 29097952 BACKGROUND

• Rayi A, Hozayen S. Chromosome Instability Syndromes. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK537198/

  PMID: 30725883 BACKGROUND

• Wardyn GG, Rennard SI, Brusnahan SK, McGuire TR, Carlson ML, Smith LM, McGranaghan S, Sharp JG. Effects of exercise on hematological parameters, circulating side population cells, and cytokines. Exp Hematol. 2008 Feb;36(2):216-23. doi: 10.1016/j.exphem.2007.10.003.

  PMID: 18206729 BACKGROUND

• Ye M, Liu T, Mao X, Tan X, Wang J, Xu M. Effectiveness of exercise rehabilitation on aplastic anemia patients receiving hematopoietic stem cell transplantation: study protocol for a randomized controlled trial. Trials. 2024 Jun 5;25(1):361. doi: 10.1186/s13063-024-08197-4.

  PMID: 38840199 BACKGROUND

MeSH Terms

Conditions

Fanconi Anemia; Fatigue

Interventions

Rehabilitation

Condition Hierarchy (Ancestors)

Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Aftercare; Continuity of Patient Care; Patient Care; Therapeutics; Health Services; Health Care Facilities Workforce and Services

Study Officials

• Mohammad Ali Tabibi, Dr

  Pardis Specialized Wellness Institute

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Masking Details: Due to the nature of a single-case study and individualized delivery of the intervention, blinding is not applicable. However, efforts will be made to minimize bias during outcome evaluation by having outcome measures reviewed by an independent assessor when possible.
• Purpose: SUPPORTIVE CARE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: This is a longitudinal single-subject case study in which one adult patient diagnosed with Fanconi anemia will undergo a structured, in-person supervised corrective exercise and rehabilitation program. The subject will serve as their own control, with baseline measurements compared to post-intervention outcomes.

Study Record Dates

• First Submitted: April 26, 2025
• First Posted: May 6, 2025
• Study Start: May 3, 2025
• Primary Completion: July 2, 2025
• Study Completion: July 20, 2025
• Last Updated: August 12, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• Time Frame: The data will be available after the paper is published. No end date.
• Access Criteria: Not applicable. It will be accessible for public.

Locations

IR (1)